{"orpha":261265,"name":"17q12 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(17)(q12)","Monosomy 17q12"],"definition":"17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261265/","orphanet_url":"https://www.orpha.net/en/disease/detail/261265","names":{"fr":{"name":"Syndrome de microdélétion 17q12","synonyms":["Del(17)(q12)","Monosomie 17q12"],"definition":"Le syndrome de microdélétion 17q12 est un syndrome rare d'anomalie chromosomique résultant de la délétion partielle du bras long du chromosome 17. Il se caractérise par une maladie rénale cystique, un syndrome kystes rénaux-diabète (MODY5) et des troubles neuro-développementaux tels qu'une atteinte cognitive, un retard du développement (affectant surtout la parole), des traits autistiques et un trouble du spectre autistique. Les signes additionnels ayant aussi été rapportés sont une aplasie müllerienne chez les patientes, une macrocéphalie, une légère dysmorphie faciale (front haut, yeux profondément implantés, joues pleines), et une hypercalcémie transitoire."},"de":{"name":"Mikrodeletionssyndrom 17q12","synonyms":["Del(17)(q12)","Monosomie 17q12"],"definition":"Das Mikrodeletionssyndrom 17q12 ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 17 resultiert und durch eine zystische Nierenerkrankung, einen Altersdiabetes Typ 5 und neurologische Entwicklungsstörungen wie kognitive Beeinträchtigung, Entwicklungsverzögerung (insbesondere der Sprache), autistische Züge und Autismus-Spektrum-Störung gekennzeichnet ist. Müllersche Aplasie bei Frauen, Makrozephalie, leichter Gesichtsdysmorphismus (hohe Stirn, tiefliegende Augen und Pausbäckchen) und vorübergehende Hyperkalzämie wurden ebenfalls berichtet."},"es":{"name":"Síndrome de microdeleción 17q12","synonyms":["Del(17)(q12)","Monosomía 17q12"],"definition":"El síndrome de microdeleción 17q12 es un síndrome poco frecuente de anomalías cromosómicas resultante de la deleción parcial del brazo largo del cromosoma 17 caracterizado por enfermedad quística renal, diabetes del adulto de inicio juvenil tipo 5, trastornos del neurodesarrollo, tales como trastorno cognitivo, retraso del desarrollo (particularmente del habla), rasgos autistas y trastornos del espectro autista. También se ha descrito aplasia de Müller en mujeres, macrocefalia, rasgos faciales dismórficos leves (frente alta, ojos hundidos y mejillas llenas) e hipercalcemia transitoria."},"it":{"name":"Sindrome da microdelezione 17q12","synonyms":["Del(17)(q12)","Monosomia 17q12"],"definition":"La sindrome da microdelezione 17q12 è un'anomalia cromosomica rara causata dalla delezione parziale del braccio lungo del cromosoma 17; è caratterizzata da una malattia cistica renale, diabete giovanile ad esordio nell'età matura, tipo 5, e anomalie dello sviluppo neurologico, compreso il deficit cognitivo, il ritardo dello sviluppo (in particolare del linguaggio), i tratti autistici e i disturbi dello spettro autistico. Possono essere presenti anche aplasia mülleriana nelle femmine, macrocefalia, lievi dismorfismi facciali (fronte alta, occhi infossati e guance paffute) e ipercalcemia transitoria."},"nl":{"name":"17q12-microdeletiesyndroom","synonyms":["Del(17)(q12)","Monosomie 17q12"],"definition":"17q12 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van de partiële deletie van de lange arm van chromosoom 17 en wordt gekarakteriseerd door cystische nierziekte, ouderdomsdiabetes bij jongeren type 5, en stoornissen van de neurologische ontwikkeling zoals cognitieve beperking, ontwikkelingsachterstand (vooral van de spraak), autistische kenmerken en autismespectrumstoornis. Mülleriaanse aplasie bij vrouwen, macrocefalie, milde gelaatsdysmorfie (hoog voorhoofd, diepliggende ogen en mollige wangen), en tijdelijke hypercalciëmie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microdeleção 17q12"},"pl":{"name":"Zespół mikrodelecji 17q12","synonyms":["Del(17)(q12)","Monosomia 17q12"]},"cs":{"name":"Syndrom mikrodelece 17q12","synonyms":["Del(17)(q12)","Monozomie 17q12"]},"uk":{"name":"Синдром мікроделеції 17q12","synonyms":["Del(17)(q12)","Моносомія 17q12"],"definition":"17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported."},"zh":{"name":"17q12微缺失综合征","synonyms":["17q12单体"],"definition":"17q12微缺失综合征是一种罕见的染色体异常综合征，由17号染色体长臂部分缺失引起，主要表现为肾囊性疾病、5型幼年发作型糖尿病和神经发育障碍，如认知障碍、发育迟缓(尤其是语言发育迟缓)、自闭症特征和自闭症谱系障碍。女性的苗勒管发育不良、巨颅畸形、轻度面部畸形(高额头、深陷的眼睛和胖乎乎的脸颊)和一过性高钙血症也曾被报道过。"},"tr":{"name":"17q12 mikrodelesyon sendromu","synonyms":["Del (17) (q12)","Monoszomi 17q12"]}},"xrefs":[{"source":"OMIM","code":"614527","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1286168240"},{"source":"MONDO","code":"0013797","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518822","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13297","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Not yet assessed","source":null,"hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]},{"symbol":"LHX1","name":"LIM homeobox 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22740494[PMID]","hgnc":"6593","ensembl":"ENSG00000273706","omim":"601999","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27409573[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Denmark","status":"Validated","source":"27409573[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":103.0,"area":"Worldwide","status":"Validated","source":"27409573[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100801","label":"Pancreatic aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null}]}}